Browsing by Author "Camus Appuhn, Mauricio Gonzalo"

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    Access disparities and underutilization of germline genetic testing in Chilean breast cancer patients
    (2023) Acevedo Claros, Francisco Nicolás; Walbaum García, Benjamín Vicente; Camus Appuhn, Mauricio Gonzalo; Manzor Véliz, Manuel; Muñiz Muñoz, María Sabrina; Medina Araya, Lidia; Petric Guajardo, Militza Paulina; Reyes, Paula; Domínguez, Francisco; Puschel Illanes, Klaus; Merino Lara, Tomás Rodrigo; Bravo, M. Loreto; Pinto, Mauricio P.; Ibáñez, Carolina; Hughes, Kevin; Sánchez Rojel, César Giovanni
    Purpose Latin American reports on genetic cancer risk assessments are scarce. In Chile, current breast cancer (BC) guidelines do not define strategies for germline genetic testing. Our study sought to quantify the disparities in access to genetic testing in Chilean BC patients, according to international standards and their clinical characteristics to explore improvement strategies.Methods Retrospective analysis of invasive BC databases including patients treated in a Public Hospital (PH) and in an Academic Private Center (AC) in Santiago, Chile between 2012 and 2021.Results Of 5438 BC patients, 3955 had enough data for National Comprehensive Cancer Network (NCCN) categorization. From these, 1911 (48.3%) fulfilled NCCN criteria for germline testing, of whom, 300 were tested for germline mutations and 268 with multigene panels. A total of 65 pathogenic variants were found in this subset. As expected, BRCA1/2 mutations were the most frequent (17.7%). Access to genetic testing was higher in AC versus PH (19.6% vs. 10.3%, p = 0.0001). Other variables associated with germline genetic testing were BC diagnosis after 2018, being 45 years old or younger at diagnosis, BC family history (FH), FH of ovarian cancer, non-metastatic disease, and triple-negative subtype.Conclusion In our cohort, 15% of BC patients who met NCCN criteria for germline testing were effectively tested. This percentage was even lower at the PH. Current recommendations encourage universal genetic testing for BC patients; however, our findings suggest that Chile is far from reaching such a goal and national guidelines in this regard are urgently needed. To our knowledge, this is the first study of its kind in Chile and Latin America.
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    Breast cancer at extreme ages - A comparative analysis in Chile
    (2015) Acevedo Claros, Francisco Nicolás; Camus Appuhn, Mauricio Gonzalo; Sánchez Rojel, César Giovanni
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    Can histological grade and mitotic index replace Ki67 to determine luminal breast cancer subtypes?
    (2018) Oddo Benavides, David; Pulgar, Dahiana; Peña, José; Acevedo Claros, Francisco Nicolás; Razmilic Valdés, Dravna Nichi; Navarro Ortega, María Elena; Camus Appuhn, Mauricio Gonzalo; Merino Lara, Tomas Rodrigo; Sánchez, César; Pérez Sepúlveda, Alejandra Andrea; Villarroel, Alejandra; Galindo, Héctor; Elgueta, Nicole; Retamal, Ignacio
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    Cáncer de mama avanzado receptor de estrógeno positivo: Manejo sistémico actual
    (2018) Sánchez Rojel, César Giovanni; Valenzuela Velasquez, Yasna Daniela; Pérez-Sepúlveda, Alejandra; Villarroel Pérez, María Alejandra; Medina Araya, Lidia; Camus Appuhn, Mauricio Gonzalo; Acevedo Claros, Francisco Nicolás
    El cáncer de mama es la primera causa de muerte por cáncer en mujeres chilenas. Mientras la mayoría de las personas logra curarse de esta enfermedad, un 5% de los casos se presenta inicialmente con enfermedad avanzada y hasta un 20-30% de pacientes con enfermedad localizada pueden sufrir recurrencias sistémicas. La mayoría de las neoplasias mamarias son dependientes del estímulo estrogénico, de allí que la deprivación de estrógenos es la principal estrategia terapéutica. Recientemente, el uso de terapias molecularmente dirigidas en combinación con la terapia endocrina ha logrado mejorar los resultados de sobrevida del cáncer de mama avanzado, con menos efectos colaterales que aquellos producidos por la quimioterapia convencional. El conocimiento de los mecanismos de acción de estas nuevas terapias, sus toxicidades, vías de resistencia y selección de pacientes para lograr los mejores beneficios terapéuticos son aspectos relevantes en el manejo de la enfermedad. Presentamos una revisión del estado actual del manejo del cáncer de mama metastásico hormonodependiente con enfásis en el uso de terapias endocrinas combinadas con terapias moleculares.
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    Cáncer de mama en mujeres adultas mayores, características clínicas e histopatológicas y resultados del tratamiento con intención curativa
    (2013) Sánchez Rojel, César Giovanni; Bakal, Federico L.; Camus Appuhn, Mauricio Gonzalo; Besa de C., Pelayo
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    Cáncer de mama Her2-positivo: Terapias sistémicas actuales y experiencia local
    (2023) Walbaum García, Benjamín Vicente; Acevedo Claros, Francisco Nicolás; Carrillo Barrientos, Diego Ignacio; Camus Appuhn, Mauricio Gonzalo; Manzor V., Manuel; Martinez R., Raúl; Veglia Q., Paulina; Murature S., Geraldine; Salvado U., Valentina; Muñiz Muñoz, María Sabrina; Merino Lara, Tomás Rodrigo; Sanchez Rojel, César Giovanni
    Breast cancer (BC) is the leading cause of cancer death for women both worldwide and in Chile. Based on clinical, histological, and molecular features, studies have identified four BC subtypes that correlate with treatment sensitivity. Human Epidermal growth factor Receptor type 2-positive (HER2+) BC re-presents 15%-25% of newly diagnosed breast neoplasms; HER2+ BC is characterized by its aggressive behavior, early recurrence, and higher risk of brain metastasis. In recent years, HER2-targeted therapies have become the mainstay of treatment and have redefined the natural history of this subtype, reducing relapse rates for early-stage patients and increasing survival in advanced-stage patients. Herein we review novel treatment strategies and their mechanisms of action, along with clinical and real-world data. We also provide a summary of currently available treatments for this subtype and our local experience regarding the management of this disease.
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    Clinical characteristics, risk factors, and outcomes in Chilean triple negative breast cancer patients: a real-world study
    (2023) Acevedo Claros, Francisco Nicolás; Walbaum, Benjamin; Medina, Lidia; Merino Lara, Tomás Rodrigo; Camus Appuhn, Mauricio Gonzalo; Puschel Illanes, Klaus; Ramírez Parada, Karol Lilia; Manzor, Manuel; Veglia, Paulina; Martinez, Raul; Guerra, Constanza; Navarro, Marisel; Bauerle, Catherine; Domínguez Covarrubias, Francisco José; Sánchez Rojel, César Giovanni
    Background Latin American (LA) studies on triple-negative breast cancer (TNBC) and their characteristics are scarce. This forces physicians to make clinical decisions based on data obtained from studies that include non-Hispanic patients. Our study sought to obtain local epidemiological data, including risk factors and clinical outcomes from a Chilean BC registry. Methods This was a retrospective population-cohort study that included patients treated at a community hospital (mid-low income) or an academic private center (high income), in the 2010-2021 period. Univariate and multivariate analyses were performed to identify prognostic factors associated with survival. Results 647 out of 5,806 BC patients (11.1%) were TNBC. These patients were younger (p = 0.0001) and displayed lower rates of screening-detected cases (p = 0.0001) compared to non-TNBC counterparts. Among TNBC patients, lower income (i. e., receiving treatment at a community hospital) was associated with poorer overall survival (HR: 1.53; p = 0.0001) and poorer BC specific survival (HR: 1.29; p = 0.004). Other risk factors showed no significant differences between TNBC and non-TNBC. As expected, 5-year OS was significantly shorter on TNBC versus non-TNBC patients (p = 0.00001). In our multivariate analyses TNBC subtype (HR: 2.30), locally advanced stage (HR: 7.04 for stage III), lower income (HR: 1.64), or non-screening detected BC (HR: 1.32) were associated with poorer OS. Conclusion To the best of our knowledge, this is the largest LA cohort of TNBC patients. Interestingly, the proportion of TNBC among Chileans was smaller compared to similar studies within LA. As expected, TNBC patients had poorer survival and higher risk for early recurrence versus non-TNBC. Other relevant findings include a higher proportion of premenopausal patients among TNBC. Also, mid/low-income patients that received medical attention at a community hospital displayed lower survival versus private health center counterparts.
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    Clinicopathologic subtypes and compromise of lymph nodes in patients with breast cancer
    (2014) Jans B, J.; Escudero M, N.; Pulgar B, D.; Acevedo Claros, Francisco Nicolás; Sánchez R, C.; Camus Appuhn, Mauricio Gonzalo
    Breast cancer (BC) is currently a heterogeneous disease with variations in clinical behaviour. Classification according to subtypes has allowed progress in the individualisation of treatment. The objective of this study is to evaluate the risk of axillary node compromise in patients with BC, according to clinicopathologic subtypes. Materials and methods are a retrospective, descriptive-analytical study. All patients that had undergone surgery for invasive BC were included, with the study of sentinel lymph nodes (SLNs) at Hospital Clínico de la Pontificia Universidad Católica, between May 1999 and December 2012. The results showed 632 patients fulfilled the inclusion criteria, with the median age being 55 years (range: 28–95), and 559 (88.4%) patients presented with estrogen receptor and/or progesterone receptor positive tumours. Luminal A: 246 patients (38.9%), luminal B: 243 (38.4%), luminal not otherwise specified: 70 (11.1%) triple negative (TN): 60 (9.5%) and over expression of epidermal growth factor type 2 receptor (HER2 positive): 13 (2.1%). Luminal tumours displayed a greater risk of metastasis in the SLNs, but this difference was not statistically significant (p = 0.67). TN and HER2 positive tumours presented the greatest proportion of metastatic compromise in non-sentinel lymph nodes (non-SLNs) (57.1% and 50%, respectively). The presence of macrometastasis (MAM) in the SLN was associated with a greater risk of compromise of the non-SLN. Conclusions: Luminal tumours are the most frequent and present a greater proportion of axillary lymph node compromise, without being statistically significant. TN and HER2 positive tumours tend to have a higher axillary compromise; however, this was not statistically significant in either. Only the presence of MAM in SLNs displayed a statistically significantly association in the compromise of non-SLNs.
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    Correlation between Ki67 and histological grade in breast cancer patients treated with preoperative chemotherapy
    (2014) Petric Guajardo, Militza Paulina; Martínez Riquelme, Santiago Felipe; Acevedo Claros, Francisco Nicolás; Oddo Benavides, David; Artigas Barrenechea, Rocío; Camus Appuhn, Mauricio Gonzalo; Sánchez Rojel, César Giovanni
    Background and Aim: Breast cancer (BC) is a heterogeneous disease and cell proliferation markers may help to identify subtypes of clinical interest. We here analyzed the correlation between cell proliferation determined by Ki67 and HG in BC patients undergoing preoperative chemotherapy (PCT). Materials and Methods: We obtained clinical/pathological data from patients with invasive BC treated at our institution from 1999 until 2012. Expression of estrogen receptor (ER), progesterone receptor (PR), epidermal growth factor receptor type 2 (HER2) and Ki67 were determined by immuno-histochemistry (IHC). Clinicopathological subtypes were defined as: Luminal A, ER and/or PR positive, HER2 negative, HG 1 or 2; Luminal B, ER and/or PR positive, HER2 negative or positive and/or HG 3; triple negative (TN), ER, PR and HER2 negative independent of HG; HER2 positive, ER, PR negative and HER2 positive, independent of HG. By using Ki67, a value of 14% separated Luminal A and B tumors, independently of the histological grade. We analyzed correlations between Ki67 and HG, to define BC subtypes and their predictive value for response to PCT. Results: 1,560 BC patients were treated in the period, 147 receiving PCT (9.5%). Some 57 had sufficient clinicopathological information to be included in the study. Median age was 52 years (26-72), with 87.7% invasive ductal carcinomas (n=50). We performed IHC for Ki67 in 40 core biopsies and 50 surgical biopsies, 37 paired samples with Ki67 before and after chemotherapy being available. There was no significant correlation between Ki67 and HG (p=0.237), both categorizing patients into different subtypes. In most cases Ki67 decreased after PCT (65.8%). Only 3 patients had pathologic complete response (cPR). Conclusions: In our experience we did not find associations between Ki67 and HG. Determination of clinicopathological luminal subtypes differs by using Ki67 or HG.
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    Cuándo y cómo realizar una biopsia de las lesiones cutáneas frecuentes. Lo que el cirujano debe saber
    (2015) Droppelmann Droppelmann, Katherine Ann; Cataldo C., Karina; Molgó Novell, Montserrat; Goñi Espíldora, Ignacio; León Ramírez, Augusto; Camus Appuhn, Mauricio Gonzalo; González Díaz, Hernán; Domínguez Covarrubias, Francisco José; Droppelmann, Nicolás
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    Different Array CGH profiles within hereditary breast cancer tumors associated to BRCA1 expression and overall survival
    (2016) Álvarez Aguilera, Carolina Soledad.; Tapia Espinoza, Teresa Marloren; Solís, Luisa.; Corvalán R., Alejandro; Camus Appuhn, Mauricio Gonzalo; Carvallo de Saint Quentin, Pilar; Aravena, Andrés.; Rozenblum, Ester.; Álvarez, Manuel.; Munroe, David.; Maass, Alejandro.
    Abstract Background Array CGH analysis of breast tumors has contributed to the identification of different genomic profiles in these tumors. Loss of DNA repair by BRCA1 functional deficiency in breast cancer has been proposed as a relevant contribution to breast cancer progression for tumors with no germline mutation. Identifying the genomic alterations taking place in BRCA1 not expressing tumors will lead us to a better understanding of the cellular functions affected in this heterogeneous disease. Moreover, specific genomic alterations may contribute to the identification of potential therapeutic targets and offer a more personalized treatment to breast cancer patients. Methods Forty seven tumors from hereditary breast cancer cases, previously analyzed for BRCA1 expression, and screened for germline BRCA1 and 2 mutations, were analyzed by Array based Comparative Genomic Hybridization (aCGH) using Agilent 4x44K arrays. Overall survival was established for tumors in different clusters using Log-rank (Mantel-Cox) Test. Gene lists obtained from aCGH analysis were analyzed for Gene Ontology enrichment using GOrilla and DAVID tools. Results Genomic profiling of the tumors showed specific alterations associated to BRCA1 or 2 mutation status, and BRCA1 expression in the tumors, affecting relevant cellular processes. Similar cellular functions were found affected in BRCA1 not expressing and BRCA1 or 2 mutated tumors. Hierarchical clustering classified hereditary breast tumors in four major, groups according to the type and amount of genomic alterations, showing one group with a significantly poor overall survival (p = 0.0221). Within this cluster, deletion of PLEKHO1, GDF11, DARC, DAG1 and CD63 may be associated to the worse outcome of the patients. Conclusions These results support the fact that BRCA1 lack of expression in tumors should be used as a marker for BRCAness and to select these patients for synthetic lethality approaches such as treatment with PARP inhibitors. In addition, the identification of specific alterations in breast tumors associated with poor survival, immune response or with a BRCAness phenotype will allow the use of a more personalized treatment in these patients.
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    Evaluación del valor pronóstico de la relación neutrófilos/linfocitos en cáncer de mama de subtipos agresivos
    (2016) Mimica, Ximena; Acevedo Claros, Francisco Nicolás; Oddo Benavides, David; Ibañez, Carolina; Medina Araya, Lidia; Kalergis Parra, Alexis Mikes; Camus Appuhn, Mauricio Gonzalo; Sanchez, Cesar G.
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    Impacto de las metástasis del linfonodo centinela y su tamaño, en el tratamiento del cáncer de mama
    (2014) Escudero, N.; Jans J.; Leon, F.; León Ramírez, Augusto; Domínguez Covarrubias, Francisco José; Goñi Espíldora, Ignacio; Droppelmann, Nicolás; Sánchez Rojel, César Giovanni; Oddo Benavides, David; Camus Appuhn, Mauricio Gonzalo
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    Inmunohistoquímica convencional como predictor de respuesta y sobrevida en pacientes con cáncer de mama tratadas con quimioterapia preoperatoria. Experiencia de un centro
    (2015) Acevedo Claros, Francisco Nicolás; Camus Appuhn, Mauricio Gonzalo; Vial, Catalina; Panay, Sergio; Abarca, Marcelo; Domínguez Covarrubias, Francisco José; Sánchez Rojel, César Giovanni
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    Medullary thyroid cancer. Review of 28 patients
    (2013) Pulgar, D.; Jans, J.; Petric, M.; León Ramírez, Augusto; Camus Appuhn, Mauricio Gonzalo; Goñi Espíldora, Ignacio; Domínguez Covarrubias, Francisco José; Droppelmann, Nicolás; González Díaz, Hernán; Claure Saavedra, Raúl
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    miR-146a and miR-638 in BRCA1-deficient triple negative breast cancer tumors, as potential biomarkers for improved overall survival
    (2016) Zavala Cordero, Valentina Andrea; Pérez Moreno, Elisa Valentina; Tapia, T.; Camus Appuhn, Mauricio Gonzalo; Carvallo de Saint Quentin, Pilar
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    Nuevas terapias sistémicas para el tratamiento del melanoma
    (2016) Droppelmann, Nicolás; León Ramírez, Augusto; Goñi Espíldora, Ignacio; González Díaz, Hernán; Domínguez Covarrubias, Francisco José; Camus Appuhn, Mauricio Gonzalo; Nervi Nattero, Bruno; Uribe González, Pablo Francisco; Molgó Novell, Montserrat; Acevedo Claros, Francisco Nicolás
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    Programa pionero de simulación en sutura para estudiantes de medicina de pregrado
    (2015) Alvarado, Juan; Henríquez R., Juan Pablo; Castillo R., Richard; Sosa B., Javiera; León F., Felipe; Varas, Julián; Camus Appuhn, Mauricio Gonzalo; Riquelme Pérez, Arnoldo; Crovari Eulufi, Fernando; Martínez Castillo, Jorge; Boza, Camilo; Jarude C., Nicolás; Alvarado, Juan; Henríquez R., Juan Pablo; Castillo R., Richard; Sosa B., Javiera; León F., Felipe; Varas, Julián; Camus Appuhn, Mauricio Gonzalo; Riquelme Pérez, Arnoldo; Crovari Eulufi, Fernando; Martínez Castillo, Jorge; Boza, Camilo; Jarude C., Nicolás
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    Risk factors for loco-regional recurrence in breast cancer patients: A retrospective study
    (2018) Merino Lara, Tomas Rodrigo; Ip, Teresa; Domínguez Covarrubias, Francisco José; Acevedo Claros, Francisco Nicolás; Medina Araya, Lidia; Villarroel, Alejandra; Camus Appuhn, Mauricio Gonzalo; Vinés Vásquez, Eugenio; Sánchez Rojel, César Giovanni